Gene: BRCA1 ×
Source: CLINVAR ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057517590
rs1057517590
BRCA1
2 1.000 17 43063370 frameshift variant A/- del 0.700 1.000 1 2004 2004
dbSNP: rs1057518636
rs1057518636
BRCA1
3 1.000 17 43047646 frameshift variant -/A ins 0.700 0
dbSNP: rs1060505051
rs1060505051
BRCA1
2 1.000 17 43091883 frameshift variant AAGTT/- delins 0.700 0
dbSNP: rs1131692162
rs1131692162
BRCA1
1 17 43099781 stop gained C/A snv 0.700 0
dbSNP: rs1555581104
rs1555581104
BRCA1
2 1.000 17 43071235 frameshift variant CC/- delins 0.700 0
dbSNP: rs1555582520
rs1555582520
BRCA1
1 17 43076486 splice donor variant A/G snv 0.700 1.000 1 2004 2004
dbSNP: rs1555599208
rs1555599208
BRCA1
2 1.000 17 43115726 stop gained TTGCAAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGA/- del 0.700 1.000 1 2016 2016
dbSNP: rs1800747
rs1800747
BRCA1
5 0.882 0.200 17 43063952 splice acceptor variant C/A;G;T snv 0.700 0
dbSNP: rs273898674
rs273898674
BRCA1
3 0.925 0.200 17 43093472 stop gained G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs28897672
rs28897672
BRCA1
9 0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05 0.700 0
dbSNP: rs28897696
rs28897696
BRCA1
5 0.807 0.200 17 43063903 missense variant G/A;C;T snv 2.8E-05; 4.0E-06; 2.0E-05 0.700 0
dbSNP: rs397508940
rs397508940
BRCA1
2 1.000 17 43104958 splice acceptor variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs397508979
rs397508979
BRCA1
1 17 43092974 frameshift variant -/GAAAAGTGAA ins 0.700 1.000 1 2016 2016
dbSNP: rs397508983
rs397508983
BRCA1
2 1.000 17 43092959 stop gained G/A;C snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs397509160
rs397509160
BRCA1
2 1.000 17 43082474 stop gained G/A;T snv 0.700 0
dbSNP: rs397509173
rs397509173
BRCA1
4 0.925 0.200 17 43104120 splice donor variant A/C;G;T snv 0.700 0
dbSNP: rs398122630
rs398122630
BRCA1
3 0.925 0.200 17 43094204 stop gained T/A snv 0.700 0
dbSNP: rs41293465
rs41293465
BRCA1
6 0.851 0.200 17 43045767 stop gained G/A snv 1.2E-05 0.700 1.000 1 2016 2016
dbSNP: rs587781632
rs587781632
BRCA1
4 0.925 0.200 17 43106476 splice donor variant A/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs62625308
rs62625308
BRCA1
6 0.851 0.200 17 43091924 stop gained G/A;C snv 1.2E-05 0.700 0
dbSNP: rs80356923
rs80356923
BRCA1
4 0.882 0.200 17 43091891 stop gained C/A;T snv 9.9E-05 0.700 0
dbSNP: rs80356962
rs80356962
BRCA1
8 0.807 0.200 17 43047666 stop gained C/G;T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs80356978
rs80356978
BRCA1
7 0.827 0.200 17 43092809 stop gained C/A;T snv 0.700 0
dbSNP: rs80357006
rs80357006
BRCA1
4 0.925 0.200 17 43092274 stop gained A/C;G;T snv 1.2E-05 0.700 0
dbSNP: rs80357086
rs80357086
BRCA1
4 0.851 0.200 17 43106480 stop gained A/G;T snv 0.700 0